Canonical Allele Identifier: CA376714596

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470496-T-A
• MyVariant Identifiers: chr10:g.50678542T>A (hg19) ; chr10:g.49470496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470496T>A , CM000672.2:g.49470496T>A	GRCh38
NC_000010.10:g.50678542T>A , CM000672.1:g.50678542T>A	GRCh37
NC_000010.9:g.50348548T>A	NCBI36
NG_009442.1:g.73606A>T , LRG_465:g.73606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3464A>T MANE Select	ENSP00000348089.5:p.Tyr1155Phe
ENST00000679552.1:n.535A>T
ENST00000679871.1:n.610A>T
ENST00000679974.1:n.513A>T
ENST00000681632.1:n.4867A>T
ENST00000681659.1:c.3305A>T	ENSP00000505631.1:p.Tyr1102Phe
ENST00000355832.9:c.3464A>T	ENSP00000348089.5:p.Tyr1155Phe
ENST00000623073.3:c.*1760A>T	ENSP00000485650.1:n.*1760A>T
ENST00000623115.3:c.1574A>T	ENSP00000485321.1:p.Tyr525Phe
ENST00000624341.3:c.1296A>T
NM_000124.3:c.3464A>T	NP_000115.1:p.Tyr1155Phe
XR_945953.1:n.243-1069T>A
NM_001346440.1:c.3464A>T	NP_001333369.1:p.Tyr1155Phe
NM_000124.4:c.3464A>T MANE Select	NP_000115.1:p.Tyr1155Phe
NM_001346440.2:c.3464A>T	NP_001333369.1:p.Tyr1155Phe